SP6 Gene - Transcription Factor Sp6
Key regulator in tooth development, limb formation, and epithelial differentiation
Gene Information Card
| Symbol | SP6 |
|---|---|
| Full Name | Sp6 transcription factor |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 80320 ncbi.nlm.nih.gov/gene/80320 |
| Ensembl ID | ENSG00000189120 |
| UniProt ID | Q9BWH2 |
| OMIM ID | 608394 |
| HGNC ID | 11228 |
| Aliases | EPFN, KLF14, MGC126562 |
Description
The SP6 gene encodes a member of the Sp/KLF family of transcription factors. It contains a zinc finger DNA-binding domain and is involved in regulating gene expression during development, particularly in tooth morphogenesis, limb formation, and epithelial differentiation. SP6 acts as a transcriptional activator or repressor depending on context and is essential for normal development of ectodermal structures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tooth agenesis (hypodontia) | Loss-of-function mutations in SP6 disrupt tooth development pathways | OMIM 608394; PMID: 19110258 |
| Krabbe disease (potential modifier) | SP6 may influence galactocerebrosidase expression; association not fully established | ClinVar; PMID: 23430882 |
| Oral squamous cell carcinoma | Overexpression of SP6 promotes cell proliferation and invasion | COSMIC; PMID: 25605274 |
| Breast cancer | SP6 expression correlates with poor prognosis and epithelial-mesenchymal transition | COSMIC; PMID: 29348629 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | Medium |
| Oral mucosa | 12.8 | Medium |
| Esophagus | 10.1 | Medium |
| Salivary gland | 8.5 | Low |
| Lung | 6.3 | Low |
| Breast | 4.7 | Low |
| Kidney | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 18.5 | High expression in keratinocytes |
| SCC-9 (oral squamous) | 22.3 | Overexpressed in oral cancer |
| MCF-7 (breast cancer) | 7.2 | Moderate expression |
| A549 (lung cancer) | 5.8 | Low expression |
| HEK293 (embryonic kidney) | 1.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104G>A (p.Arg35Gln) | Missense | <0.01% | Reduced DNA-binding affinity; associated with tooth agenesis |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Loss of transcriptional activity; reported in hypodontia |
| c.631_632insA (p.Thr211Asnfs*12) | Frameshift | <0.01% | Premature truncation; loss of function |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | No protein production; severe tooth agenesis |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in the zinc finger domain or N-terminus reduce or abolish DNA binding and transcriptional activity, leading to tooth agenesis.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a gain-of-function but no specific activating mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects; mutations appear to be recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sp/KLF transcription factor family pathway
• Tooth development (Hedgehog
• BMP
• FGF signaling)
• Epithelial-mesenchymal transition in cancer
Protein Summary
SP6 is a 377-amino acid transcription factor with three C2H2-type zinc fingers at the C-terminus. It binds GC-rich promoter regions and regulates genes involved in cell proliferation, differentiation, and apoptosis. SP6 is critical for tooth and limb development and is aberrantly expressed in several cancers, where it may promote tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SP6 Knockout HEK293 Cell Line | EDJ-KQ9526 | Human | 80320 | Details Get a Quote |
| SP6 Knockout A-549 Cell Line | EDJ-KQ36295 | Human | 80320 | Details Get a Quote |
| SP6 Knockout HCT 116 Cell Line | EDJ-KQ36296 | Human | 80320 | Details Get a Quote |
| SP6 Knockout HeLa Cell Line | EDJ-KQ36297 | Human | 80320 | Details Get a Quote |
